Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.

doi:10.1016/j.ajo.2020.06.027

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Article

Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.

American journal of ophthalmology - 1 Nov 2020

Del Pozo-Valero Marta, Riveiro-Alvarez Rosa, Blanco-Kelly Fiona, Aguirre-Lamban Jana, Martin-Merida Inmaculada, Iancu Ionut-Florin, Swafiri Saoud, Lorda-Sanchez Isabel, Rodriguez-Pinilla Elvira, Trujillo-Tiebas Maria José, Jimenez-Rolando Belen, Carreño Ester, Mahillo-Fernandez Ignacio, Rivolta Carlo, Corton Marta, Avila-Fernandez Almudena, Garcia-Sandoval Blanca, Ayuso Carmen

Abstract excerpt

PURPOSE: To define genotype-phenotype correlations in the largest cohort study worldwide of patients with biallelic ABCA4 variants, including 434 patients with Stargardt disease (STGD1) and 72 with cone-rod dystrophy (CRD). DESIGN: Cohort study. METHODS: We characterized 506 patients with ABCA4 variants using conventional genetic tools and next-generation sequencing technologies. Medical history and...

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PMID: 32619608
DOI: 10.1016/j.ajo.2020.06.027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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